tbuckley/cabot-search huggingface dataset:
P36 A cross-sectional patient survey in a tertiary hidradenitis suppurativa clinic
Authors: Libin Mathew, Sally Aziz, Leila Kattach, Aadarsh Shah, Ellie Rashidghamat
Journal: British Journal of Dermatology (2023)

Abstract Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease that affects approximately 0.8% of the UK population. A survey was carried out among patients attending a tertiary HS clinic with the aim of better understanding the management of HS in primary care, and identifying the prevalence of associated risk factors. A total of 212 of the 552 patients (38.4%) invited chose to participate. The length of time patients had experienced symptoms before consulting their general practitioner (GP) was variable with 33.8% (n = 63) of participants reporting symptoms for 3–10 years and 26.3% (n = 49) experiencing symptoms for &amp;gt; 10 years. The majority of patients were given a diagnosis in secondary care (n = 103; 55.4%) and 28.5% (n = 53) by their GP. In primary care, treatments prescribed included topical treatment and antimicrobial washes (n = 107; 65.2%). Just over half (n = 84; 51.2%) were prescribed short and extended courses of antibiotics. Looking at lifestyle factors, 31.5% (n = 52) were current and 27.9% ex-smokers (n = 46). The majority (n = 108; 65.5%) identified themselves as being overweight, with 67.8% (n = 112) wanting to lose weight. Almost a third of patients (n = 107; 64.5%) did not carry out exercise regularly (defined as cardiovascular exercise three times weekly). Eighty per cent (n = 132) of patients reported that they had not received any psychological support for HS, either from primary or from secondary care. This study highlights that only a small proportion of patients with HS were diagnosed by their GP, with the majority receiving a diagnosis from their secondary care physician. A self-reported lack of confidence by GPs in diagnosing HS has historically been highlighted. Despite this lack of confidence, this study demonstrates good adherence to existing UK recommendations for the initial treatment of HS when the diagnosis is made. The negative effects of lifestyle factors on HS, such as smoking and obesity, are well recognized. Despite this, over half of patients in this study who were current smokers had not been offered referral to a smoking cessation service. This study underscores the need to screen for depression and anxiety in patients with HS and improve access to psychology services. This patient self-reported study gives an insight into the importance of providing holistic care for patients with HS. As GPs gain confidence in the diagnosis and initial management of HS, an awareness of associated lifestyle changes and comorbidities can further enhance the holistic care of patients with HS in primary care.
CPC12 Coinheritance of <i>BRCA2</i> and <i>CYLD</i> germline pathogenic variants associated with targetable metastatic malignant cylindroma
Authors: William Fostier, Akhtar Husain, Shirin Namini, Serena Nik-Zainal, Neil Rajan
Journal: British Journal of Dermatology (2023)

Abstract CYLD cutaneous syndrome (CCS) presents during puberty with the development of hair follicle tumours, including cylindromas, spiradenomas or trichoepitheliomas, and is associated with pathogenic variants in the tumour suppressor gene CYLD. Germline pathogenic variants of BRCA2 are associated with an increased risk of breast, ovarian, pancreatic and prostate cancer. Coinheritance of pathogenic variants in both genes has not been previously reported, and here, we present a 29-year-old man with metastatic malignant cylindroma, where knowledge of the germline variants has targetable therapeutic implications. The proband presented with cylindromas on his scalp from the age of 8 years, inherited from his mother who had CCS. The proband’s father and paternal grandmother both had early-onset breast cancer. The proband’s 33-year-old sister had been diagnosed with breast cancer and CCS; genetic testing revealed germline pathogenic variants in both BRCA2 and CYLD. Aged 28 years, the proband presented with a growing, ulcerated cylindroma on the scalp. Histology revealed a biphasic neoplasm, showing malignant cylindroma with high-grade features arising within a pre-existing benign cylindroma. The malignant epithelioid component of the tumour showed brisk mitotic activity (25 mitoses per mm2) and large infiltrative nests with central comedo-type necrosis. Immunohistochemistry showed positivity for epithelial membrane antigen, CK7, p63 and patches of CK5/6, whereas carcinoembryonic antigen, S100 and human melanoma black-45 were negative. Several weeks after excision of the malignant scalp cylindroma, a lump presented on the left side of the patient’s neck; biopsy revealed histology consistent with the malignant scalp cylindroma. Radiological imaging revealed metastatic deposits of malignant cylindroma in the right axilla, both lungs and the brain. Genetic testing of the proband revealed germline pathogenic variants in both BRCA2 and CYLD, as seen in his sister. The patient received radiotherapy for the tumour in his neck, with partial resolution of symptoms and gamma-knife ablation of brain metastases. DNA extracted from the patient’s tumour was analysed using a high-resolution single-nucleotide polymorphism array, which demonstrated loss of heterozygosity including the BRCA2 and CYLD loci. The germline and somatic pathogenic variants in this patient support the use of unlicensed therapeutics that target BRCA deficiency, such as poly-ADP ribose polymerase inhibitors, which have not previously been used to treat malignant cylindroma. This case emphasizes the importance of recognizing coinheritance of tumour suppressor genes in rare genetic conditions, as this can provide novel management options and improve patient outcomes.
P89 Real-world effectiveness of guselkumab in patients with psoriasis with and without concomitant psoriatic arthritis: retrospective data from the British Association of Dermatologists Biologics and Immunomodulators Register
Authors: Kave Shams, Xiayi Wang, Justin Gillespie, Bhavika Chauhan
Journal: British Journal of Dermatology (2023)

Abstract Guselkumab is a monoclonal antibody that inhibits interleukin (IL)-23 signalling by binding to its p19 subunit and is approved to treat adults with moderate-to-severe plaque psoriasis and active psoriatic arthritis (PsA). BADBIR collects UK and Eire real-world observational data and includes patients receiving biologic treatments for psoriasis, with PsA being one of the recorded comorbidities at the time of enrolment. Absolute PASI (aPASI) scores can be used to quantify treatment effectiveness in routine clinical practice, and it has been suggested that an aPASI ≤ 2 represents a relevant disease endpoint to inform treat-to-target psoriasis-management strategies. This retrospective analysis evaluated the 1-year, real-world effectiveness of guselkumab on aPASI response in patients with moderate-to-severe plaque psoriasis and the subset of patients with and without concomitant PsA within BADBIR. Analyses were carried out on data collected up to the September 2021 data cutoff. Data were obtained from patients who had initiated guselkumab treatment and had recorded measurements for aPASI at baseline and 12-month follow-up was analysed. Measures of treatment effect for psoriasis included mean aPASI response, as well as the proportion of patients achieving an aPASI score of ≤ 1, ≤ 2, ≤ 3 and ≤ 5. Incomplete data collection limited the sample size of patients available for analysis. Five patients receiving guselkumab were excluded due to stopping treatment prior to the 12-month cutoff. Stratified by diagnosis, 36 (30.8%) patients had a concomitant diagnosis of PsA vs. 81 (69.2%) who did not. In the overall guselkumab-treated cohort (n = 117), mean (SD) aPASI at baseline and the following 12 months of treatment were 11.85 (8.95) and 2.45 (4.24), respectively. Following 12 months of guselkumab treatment in the cohort of patients with psoriasis (without concomitant PsA), 48 (59.3%) achieved an aPASI ≤ 1, 56 (69.1%) an aPASI ≤ 2, 64 (79.0%) an aPASI ≤ 3 and 69 (85.2%) an aPASI ≤ 5. In the concomitant PsA group, 19 (52.8%) achieved an aPASI score of ≤ 1, 22 (61.1%) achieved an aPASI score of ≤ 2, 28 (77.8%) achieved an aPASI ≤ 3 and 30 (83.3%) achieved an aPASI ≤ 5. Over 50% of guselkumab patients achieved an aPASI ≤ 1 at 12 months, supporting the effectiveness of targeting IL-23 with guselkumab for the treatment of psoriasis over 1 year. These results demonstrate that comparable responses were achieved for the treatment of psoriasis with guselkumab in patients with and without a concomitant PsA diagnosis within a real-world cohort.
P45 An analysis of infantile haemangioma referrals and comparison with the infantile haemangioma European task force’s ‘infantile haemangioma referral score’
Authors: Nicole Fagan, Eilis Nic Dhonncha, Muriel Sadlier
Journal: British Journal of Dermatology (2023)

Abstract Infantile haemangiomas (IHs) are common. Timely referral and treatment can minimize complications in high-risk lesions. The IH European Task Force developed the Infantile Haemangioma Referral Score (IHRes) in 2020 (Léauté-Labrèze C, Torres EB, Weibel L et al. The Infantile Hemangioma Referral Score: a validated tool for physicians. Pediatrics 2020; 145:e20191628). This is a simple, easy-to-access validated screening tool that can assist physicians in deciding which IHs to refer to an expert centre. The aim of this study was to assess the quality of IH referrals to a national care centre. Data were retrospectively collected from a random sample of patients over a 13-month period between January 2019 and February 2020. Fifty-six patients were included. Eighty-six per cent had a solitary haemangioma (n = 48); 52% of IHs were located on the head (n = 29). Sixteen patients (29%) were referred between 5 and 8 weeks of age (29%); five patients (9%) were referred before 5 weeks of age. The majority of referrals came from primary care (55%; n = 31). Seventy-three per cent of referrers did not specify the urgency of the referrals (n = 41); 59% were subsequently triaged as urgent by a consultant dermatologist (n = 33). Most referrals did not specify the size of the IH (43%; n = 24), if it was actively growing (48%; n = 27), ulcerated (93%; n = 52) or potentially function threatening (84%; n = 47). Nine per cent included a photograph of the lesion (n = 5). Seventy-five per cent of referrals satisfied the IHRes six major criteria or had scores &amp;gt; 4, warranting a referral (n = 42). Fifteen patients (27%) were started on propranolol at first appointment and a further 12 were monitored in a return appointment. Our results show that use of the IHReS tool could improve clinical outcomes by identifying children that require specialist referral earlier and facilitate easier triage of referrals.
P11 Acrodermatitis chronica atrophicans: a sign of late lyme disease
Authors: Elsa Morgan, James Wiggins, Megan Mowbray, Michael Tidman
Journal: British Journal of Dermatology (2023)

Abstract Borrelia infection manifests a variety of signs and symptoms, and its insidiousness and heterogeneity mean that its diagnosis can be delayed. We describe two patients from south-east Scotland who presented with unilateral asymptomatic atrophic areas of skin discoloration. The first was a 71-year-old woman, who presented with a 4-month history of a nonprogressive, mottled, erythematous rash involving her right thigh, buttock and calf. Case 2 was a 56-year-old woman with a 2-year history of an erythematous area of atrophic skin involving the medial aspect of her left thigh and shin. Histology from case 1 showed a normal epidermis with a largely ‘top-heavy’ superficial and deep, predominantly interstitial and focally perivascular, lymphohistiocytic infiltrate, with a predominance of mononuclear histiocytes and with focal extension to deep reticular dermis. Scattered plasma cells were identified, but eosinophils were not a prominent feature. Well-formed granulomas were absent, as were interface dermatitic activity and vasculitic changes. On close questioning, each patient remembered ‘insect’ bites in the vicinity of the cutaneous changes, although neither recalled rashes that could have been consistent with erythema chronicum migrans. In both cases, serology confirmed infection with Borrelia burgdorferi (sensu lato) and diagnoses of acrodermatitis chronica atrophicans (ACA) were made. Both patients responded well to oral treatment with doxycycline. ACA is a cutaneous sign of late-stage Lyme disease and is caused by ongoing active skin infection by tick-borne bacteria of the Lyme disease group of Borrelia species. The tick bite has usually occurred months or years before symptom onset. Typically, there is an early, unilateral inflammatory stage with bluish-red discoloration of the skin and an oedematous appearance. This is followed by an atrophic stage where the skin becomes thin and wrinkled (‘cigarette paper’-like), with the loss of epidermal and dermal structures. Histological features usually include marked atrophy of the epidermis and dermis, loss of adnexal structures and an absence of elastic tissue. A band-like lymphocytic infiltration with plasma cells and mast cells is seen in the dermis, especially in the early stage of disease. Laboratory-confirmed cases of Lyme borreliosis in the UK have risen steadily since reporting began in 1986. ACA is likely to be underdiagnosed and, if there is a clinical suspicion, a detailed history, careful skin examination, Borrelia serology and skin biopsy should be undertaken. Early recognition and treatment reduce the risk of irreversible skin changes and systemic symptoms.
P87 Therapeutic outcomes in xanthoma disseminatum with cladribine: a long-term experience of six patients from a tertiary care institute
Authors: Neha Taneja, Ananya Sharma, Ritu Sharma
Journal: British Journal of Dermatology (2023)

Abstract Xanthoma disseminatum is a rare, non-Langerhans-cell histiocytosis with systemic involvement that has limited treatment options and response. Cladribine has been previously reported in few case reports and a single case series to induce long-term remission of cutaneous lesions. The aim was to study the treatment outcomes in a long-term follow-up of patients with xanthoma disseminatum, treated with cladribine. This was an ambispective case series of six patients diagnosed with xanthoma disseminatum on the basis of clinical and histopathological features. All patients were treated with monthly cycles of cladribine (2-chlorodeoxyadenosine) 0.14 mg kg−1 daily for 5 days a month, ranging from two to eight cycles. The follow-up period ranged from 2 months to 4.75 years. There were four males and two females in our series, with mean (SD) age of 25.3 (13.1) years (range 9–48). Disease duration at presentation ranged from 1.5 to 8 years. All patients presented with skin-coloured to yellowish-brown papules in a periorbital, perioral and flexural distribution. Four of six (67%) patients had mucosal involvement. All but one patient had associated diabetes insipidus. Half the patients had bone involvement, and two showed extensive infiltrates in the brain causing neurological symptoms. Patients receiving at least three cycles (n = 5) reported a mean improvement of 72% in cutaneous lesions at the end of the follow-up period, allowing for the avoidance of tracheostomy in a patient with laryngeal involvement. Imaging (magnetic resonance imaging of the brain, positron emission computed tomography) repeated in four patients after 3–6 cycles showed evidence of significant improvement in extracutaneous disease. Adverse effects were noted in four (67%) patients, including transient leukopenia in three, post-infusion fever in one and proximal renal tubular acidosis in one. All side-effects were resolved after the cessation of therapy and/or with supportive treatment; no serious infections were reported. Cladribine is a purine analogue that has an antiproliferative effect on histiocytes and lymphocytes, as well as an immunomodulatory action. It has emerged as an effective therapeutic modality for patients with xanthoma disseminatum that necessitates further evaluation for dosage and safety.
BC04 Burden of treatment in severe acne vulgaris
Authors: Lisa Kiely, Cathal O’Connor, Aysha Almoosa, Emer Dight, Michelle Murphy
Journal: British Journal of Dermatology (2023)

Abstract Acne vulgaris is a common skin condition resulting in a significant personal burden to patients. Although the burden associated with the disease itself has been well reported, there is a paucity of data examining the burden of treatment (BOT) in acne. We performed a prospective single-centre study in a tertiary dermatology department in Ireland. Patients attending the dermatology department for acne management were invited to complete a validated BOT questionnaire with additional qualitative components, modified for use in acne. Fifty patients responded to the questionnaire. Sixty-eight per cent (n = 34) of respondents were female and 32% (n = 16) were male; mean patient age was 22.6 years (range 16–45). Eighty-two per cent (n = 41) of patients were on isotretinoin at the time of the study, with a further 18% (n = 9) on oral antibiotic therapy. The average BOT for antibiotics was 4.5/10 (range 2.5–6.9), and for isotretinoin, it was 3.8/10 (range 0.69–6.9). The greatest challenges reported with topical treatment were skin sensitivity and dryness and the lack of efficacy. The greatest challenges reported with antibiotic therapy were side-effects, including gastrointestinal upset, limited efficacy and the requirement for long-term treatment. Xerosis was described as the greatest challenge associated with isotretinoin; however, 58% of patients believed their overall BOT was decreased with isotretinoin, with statements such as ‘I really wish I’d started on isotretinoin a very long time ago’ provided. Acne results in a significant physical and psychosocial burden to patients. Patients on isotretinoin rated the BOT of isotretinoin as less than that of antibiotics and topical therapies. Prescribers should be aware of the BOT of various treatments to optimize treatment for acne.
P34 Changing patterns of skin diseases in patients attending a tertiary private hospital in central Uganda
Authors: Fiona Namutebi
Journal: British Journal of Dermatology (2023)

Abstract There is scarce epidemiological data available on the prevalence of skin disorders in Uganda, a tropical country in sub-Saharan Africa. Skin diseases are a common occurrence in sub-Saharan Africa but receive less attention because they are perceived to cause less mortality. Previous studies have reported a skin disorder prevalence of 30–70% in the general population of developing countries. The majority of studies in sub-Saharan Africa reveal skin infections as the most common dermatology disorder, with a few studies reporting a changing trend toward eczematous disorders. The aim was to investigate the spectrum of skin disorders at a tertiary private healthcare hospital in central Uganda. A cross-sectional study was conducted from September 2021 to August 2022. All patients attending the outpatient skin clinic were recruited. Initial visits were considered. The diagnosis was made clinically and, where necessary, additional investigations were carried out. Data analysis was done with SPSS version 21 (IBM) and Microsoft Excel. A total of 1097 diagnoses were made in 913 patients, of whom 72.9% were adults and 27.1% were under 18 years of age. There were 488 (53.4%) females and a mean (SD) age of 28.9 (16.2) years. The top-five diagnoses were eczematous disorders (n = 223; 20.3%), adnexal disorders (n = 195; 17.8%), infections (n = 182; 16.6%), papulosquamous disorders (n = 93; 8.5%) and pigmentary disorders (n = 59; 5.4%). The results of this research show changing patterns of skin disease presentation from infections in 2016 to eczematous disorders in 2022 as the leading cause of outpatient dermatology consultation at a tertiary private hospital in central Uganda. This calls for proper replanning and budget allocation given the changing spectrum of skin disease presentation at this facility.
CD13 Remote review for final patch test reading: a virtual reality?
Authors: Fatima Dalal, Donna A Thompson
Journal: British Journal of Dermatology (2023)

Abstract Patch test reading at day 7 is suggested in current national (British Association of Dermatologists 2017) and international (European Society of Contact Dermatitis 2015) guidelines to identify late positive reactions. Allergens most established with late reactions are metals, antibiotics, acrylates and preservatives (Viggiano T, Yiannias JA, Yang YW. A retrospective review of late delayed positive patch testing greater than day 8 at Mayo Clinic from 2001 to 2020. Dermatitis 2022; 33:411–16). We report a case of significantly delayed contact dermatitis to four acrylates and ethyl paraben in a 49-year-old immunocompetent woman. She was referred to the cutaneous allergy clinic for patch testing following a rash affecting the torso after application of a sunscreen during a sunny holiday. She reported historical skin irritation after the use of nail lacquer and at the site of a caesarean section wound that was closed with skin glue 14 years prior. Patch test reading at day 4 (96 h) was negative; positive reactions to ethyl paraben, 2-hydroxyethylmethacrylate and ethyl cyanoacrylate appeared at day 23 (552 h). Positive reactions to hexanediol diacrylate and triethylene glycol diacrylate appeared at day 31 (744 h). These were communicated to us by the patient via email, with photographs clearly showing the development of new positive reactions. Of note, there was no reaction to the sunscreen product, although ethyl paraben was identified in the ingredients list, as well as two acrylate-containing polymers. Sensitization from diagnostic patch testing carried out to accepted international guidelines is rare but can occur with some allergens such as strong sensitizers, including paraphenylenediamine. The allergens identified in our case are found commonly in everyday cosmetics, adhesives and preservatives, including some that the patient had identified previous exposure to. Acrylates are acknowledged for causing potential delayed positive reaction by day 8 (Viggiano et al.); one case report describes true allergic acrylate reaction in a dental worker after 5 weeks (Fowler JF Jr. Late patch test reaction to acrylates in a dental worker. Am J Contact Dermat 1999; 10:224–5). There are no established reports of late positive reactions to ethyl paraben. With increasing online resources, delayed reactions beyond day 7 can be established with patient-initiated remote review of photographs taken during and subsequent to patch testing appointments. This case highlights the importance of keeping channels open for patients to contact the cutaneous allergy team after the final in-person reading to ensure (very) late allergen reactions are not missed.